{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T19:49:23Z","timestamp":1790365763169,"version":"4.1.0"},"reference-count":17,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Haploinsufficiency of the gene encoding for transcription factor 4 (<jats:italic>TCF4<\/jats:italic>) was recently identified as the underlying cause of Pitt\u2013Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>\n                     <jats:italic>TCF4<\/jats:italic> mutational analysis was performed in 117 patients with PTHS-like features.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.060129","type":"journal-article","created":{"date-parts":[[2008,8,26]],"date-time":"2008-08-26T20:24:27Z","timestamp":1219782267000},"page":"738-744","source":"Crossref","is-referenced-by-count":95,"title":["Further delineation of Pitt\u2013Hopkins syndrome: phenotypic and genotypic description of 16 novel patients"],"prefix":"10.1136","volume":"45","author":[{"given":"C","family":"Zweier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Sticht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E K","family":"Bijlsma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S E","family":"Boonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M T","family":"Greally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N S","family":"den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Jongmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S G","family":"Kant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M D","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S A","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"McKee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A T","family":"Midro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S-M","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Ricotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Tarantino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Wessels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Peippo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,8,26]]},"reference":[{"key":"2025100520535994000_45.11.738.1","first-page":"182","article-title":"A syndrome of mental retardation, wide mouth and intermittent overbreathing.","volume":"14","author":"Pitt","year":"1978","journal-title":"Aust Paediatr J"},{"key":"2025100520535994000_45.11.738.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1523"},{"key":"2025100520535994000_45.11.738.3","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000184973.14775.32"},{"key":"2025100520535994000_45.11.738.4","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.1440-1754.1993.tb00472.x","article-title":"Mental retardation, macrostomia and hyperpnoea syndrome.","volume":"29","author":"Singh","year":"1993","journal-title":"J Paediatr Child Health"},{"key":"2025100520535994000_45.11.738.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<273::AID-AJMG9>3.0.CO;2-R"},{"key":"2025100520535994000_45.11.738.6","doi-asserted-by":"publisher","DOI":"10.1086\/515582"},{"key":"2025100520535994000_45.11.738.7","doi-asserted-by":"publisher","DOI":"10.1086\/515583"},{"key":"2025100520535994000_45.11.738.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm099"},{"key":"2025100520535994000_45.11.738.9","doi-asserted-by":"crossref","unstructured":"Andrieux J Lepretre F Cuisset JM Goldenberg A Delobel B Manouvrier-Hanu S Holder-Espinasse M . 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